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Fetal anomalies

Gene: DHTKD1

Amber List (moderate evidence)

DHTKD1 (dehydrogenase E1 and transketolase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000181192
EnsemblGeneIds (GRCh37): ENSG00000181192
OMIM: 614984, Gene2Phenotype
DHTKD1 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mono-allelic variants linked to CMT, post-natal onset, not relevant to this panel.

Bi-allelic variants linked to a metabolic disorder, where microcephaly is a feature. However, note some individuals are asymptomatic leading some to question whether this is a disease entity.
Created: 1 Jan 2022, 10:26 a.m. | Last Modified: 1 Jan 2022, 10:26 a.m.
Panel Version: 0.1736

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
2-aminoadipic 2-oxoadipic aciduria MIM#204750; Disorders of histidine, tryptophan or lysine metabolism

Belinda Chong (Victorian Clinical Genetics Services)

I don't know

MIM#615025
Two unrelated families and animal model. Note bi-allelic variants are associated with a metabolic disorder.

MIM#204750
>10 cases with biallelic variants reported and null mouse model has severe metabolic abnormalities
Created: 31 Dec 2021, 5:39 a.m. | Last Modified: 31 Dec 2021, 5:39 a.m.
Panel Version: 0.1723

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2Q, MIM#615025; Alpha-aminoadipic and alpha-ketoadipic aciduria MIM#204750

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • 2-aminoadipic 2-oxoadipic aciduria MIM#204750
  • Disorders of histidine, tryptophan or lysine metabolism
OMIM
614984
Clinvar variants
Variants in DHTKD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dhtkd1 has been classified as Amber List (Moderate Evidence).

1 Jan 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DHTKD1 were changed from 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA to 2-aminoadipic 2-oxoadipic aciduria MIM#204750; Disorders of histidine, tryptophan or lysine metabolism

1 Jan 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DHTKD1 were set to

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DHTKD1 was added gene: DHTKD1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DHTKD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHTKD1 were set to 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA